AFF3 p.Pro231Arg
c.692_693delinsGA · rs2104735114 · VCV1338773
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
2
AFF3-related neurodevelopmental disorders
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -5.8 | GERP -3.9 |
| Regional constraint | o/e 0.00 | constrained · MANE · 35 bp · p 1.9e-05 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- AFF3
- Protein
- p.Pro231Arg
- Coding
- c.692_693delinsGA
- MANE Select
- NM_001386135
- dbSNP
- rs2104735114
- Type
- Indel
- Location
- chr2:100006812 (GRCh38)
- Gene constraint
- LOEUF 0.318 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 52.20
- Residue 231
- the 'disordered' region; a UniProt-annotated variant site (in kins)
Similar variants
- AFF3 p.Pro231Leu Pathogenic same residue
- AFF3 p.Pro231Ser Pathogenic ⚠ same residue
- AFF3 p.Thr594_Ala596delinsSer Conflicting classifications of pathogenicity ★ same condition
- AFF3 p.Ala233Thr Pathogenic ★★ ⚠ same condition
- AFF3 p.Ala233Val Pathogenic/Likely pathogenic ★★ ⚠ same condition
- AFF3 p.Leu370Phe Uncertain significance ★★ ⚠ same condition
- AFF3 p.Ser222Thr Uncertain significance ★★ ⚠ same condition
- AFF3 p.Met238Arg Likely pathogenic ★ ⚠ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/aff3-p-pro231arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown